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Monday, June 29, 2015

I haven't really talked about the details of Morgan's
diagnoses. I've gone a little into what we've had to contend with, the
seizures, the VSD, vision issues and developmental delays. But I haven't really
given the run-down of what it is.

First of all, the syndrome she has is rare. Estimated 1 in
30,000 people are born with it.

Morgan has Dup 15q Syndrome meaning she has a partial
duplicate of chromosome 15.

There are two main types of chromosome 15 duplications.
Interstitial and Isodicentric. Morgan has Isodicentric or Idic 15 Syndrome.

Confusing, I know. It has been easier to just say that she
has Idic 15 Syndrome because that is what her medical diagnoses says and all
her corresponding medical records, even though it is also referred as Dup 15q
Syndrome.

Isodicentric chromosome 15, abbreviated idic(15), is
diagnosed in individuals who have 47
chromosomes (or sometimes more) instead of
the typical 46 chromosomes. The extra chromosome is made up of a portion of
chromosome 15 that has been duplicated and "inverted," so that there
are two copies of part of chromosome 15q attached to one another that appear to
be mirror images.

Because of this arrangement, idic(15) used to be
referred to as "inverted duplication chromosome 15." Most commonly,
the region called 15q11-q13 is the portion of chromosome 15 duplicated.

Hypotonia (Poor
Muscle Tone). Babies with Idic 15/dup15q usually
have hypotonia. Motor milestones such as rolling over, sitting up, and
walking are significantly delayed. Older children and adults
with hypotonia often tire easily.

Physical Features.
Many children with dup15q share similar facial characteristics. These
include a flat nasal bridge which gives them a "button" nose.
There may be skin folds, called "epicanthi", at the inner corners of
the eyes, and the eyes may be deep set. Ears may be low-set and/or posteriorly
rotated.

Growth. Somatic
growth is decreased in about 20–30% of individuals with dup15q, but head
growth is typically in the normal range.

Gross Motor Delays.
Gross motor delays are very common, probably partly in relationship
to hypotonia. In one article, sitting was reportedly achieved between 10
and 20 months of age, and walking between 2 and 3 years. A current study
of children with dup15q found that kids with isodicentric duplications
achieved independent walking at an average of 25.5 months (range 13-54 months),
with 3 children (out of 47) who were not ambulatory at the time of
testing. The vast majority of people with dup15q are able to
walk independently although some degree of ataxia (coordination problems) may
be apparent.

Fine Motor Delays. Fine
motor delays are widespread among children with Idic 15/dup15q syndrome.
Nonfunctional use of objects with an immature type of exploration has been
reported in the scientific literature.

Cognitive Delays.
Most individuals with Idic 15/dup15q syndrome show some degree of
cognitive delay and learning disabilities, including intellectual disability at
the more involved end of the spectrum.

Speech/Language
Delays. Most children with dup15q are affected by speech/language
delays. Expressive language may be absent or may remain very poor, and is
often echolalic with immediate and delayed echolalia and
pronoun reversal. In her study of dup15q, Dr.
Carolyn Schanen found 26 of 47 children had some language at the time
of their participation in the research study, with the first word achieved at
an average of 28.7 months (range 7-84 months) and phrase speech beginning by an
average of 44.1m (range 9-114 months). While the majority of children
with dup15q experience speech delays, a small subset of children are
highly verbal.

Behavior Challenges.
Many children with dup15q have difficulties of behavior and social
communication, with a lack of response to social cues frequently observed. In
older individuals, there is some suggestion of improving social awareness with
age.

Vision Issues.
Some children have cortical visual impairment. This seems to improve with age
and therapy.

MEDICAL ISSUES IN IDIC 15 or 15Q DUPLICATION SYNDROME

SEIZURE DISORDERS.
Seizures represent an important medical feature of dup15q syndrome.
Over half of all people with idic(15) will have at least one seizure.
The majority of those will experience their first seizure before age 5, but
seizure onset may occur as late as young adulthood. There are many different
types of seizures experienced by individuals with dup15q. Children can
start with one seizure type and other seizure types may emerge as the child
ages. The prevalence of infantile spasms among a surveyed group of families was
unusually high and suggests that idic(15) could account for a significant
percentage of infants experiencing those episodes. Infantile spasms
associated with an hypsarrhythmic (disorganized) EEG have been
reported in the scientific literature. Typical Lennox-Gastaut syndrome
or Lennox-Gastaut-like syndrome was observed in the four patients
with idic(15) reported by Battaglia et al. These had
tonic/atonic (head drops or drop attacks), tonic-clonic seizures and
atypical absences with onset between 4 and 8 years of age. Complex partial
and myoclonic seizures have been observed in a number of other
affected individuals. Response to treatment is variable. For some
children their first presenting seizures are easily controlled with medication.
However, there are many reports in the scientific literature and from
parents of seizures that are difficult to control, despite
adequate antiepileptic treatment. Difficult to control seizures
associated with some degree of deterioration have also been reported.

AUTISM SPECTRUM
DISORDERS. Multiple research reports document the risk of autism spectrum
disorders in individuals with dup15q, although not all children with
duplications develop autism. Two studies that included a total of 226 patients
with autism found dup15q in approximately 3-5% of the patients.
Chromosome 15q11-13 duplications are the most frequently identified
chromosome problem in individuals with autism.

SENSORY PROCESSING
DISORDERS. Parent report suggests that sensory processing disorders are
widespread in dup15q syndrome. These sensory processing disorders
disrupt the affected child’s ability to achieve and maintain an optimal range
of arousal and to adapt to challenges in daily life. These disorders are often
manifested by an over-responsiveness or under-responsiveness to sensory input
(sound, touch, taste, etc) or fluctuations in response to sensory input.

ATTENTION DEFICIT
DISORDERS. Attention deficit disorder/hyperactivity has been reported in a
number of cases of children with dup15q syndrome.

ANXIETY DISORDERS.
Parent report of anxiety disorders in children with dup15q syndrome
has been noted among Dup15q Alliance families. More research in this area is
needed.

INCREASED RISK FOR
SUDDEN DEATH. There is an increased risk of sudden, unexpected and
currently unexplained death among children and young adults ages 7 and older
with chromosome 15q11.2-13.1 duplication syndrome. The risk is small,
estimated at 0.5-1% per person per year. Physicians should be alert for
potentially relevant symptoms and follow up their patients according to their
best clinical judgment. Benzodiazepines and barbiturates should only be used if
alternatives are not available, given a possible association with sudden death
in this chromosomal disorder. For more information, see the Physician
Advisory Sudden Death in Chromosome 15q Duplication
Syndrome at www.dup15q.org.

Overall, it's a lot of information and a lot for a parent to
take in. I have to re-read all of this occasionally as I can never remember all
of it.

She is a handful, our little Morgan. But despite her syndrome
and all that it entails, she is the most amazing little girl. She has a strong
spirit and the depths of her beauty and mystery are endless. I can only hope
that we are strong enough to continuously take care of and provide for this
extraordinary human being.

Friday, June 19, 2015

I'm a planner. Everything in my mind is mapped out. I think everything
through, sometimes over-thinking and exhausting myself in the process. I like
having an idea of what I'm up against. I analyze, turning the problem this way
and that, until I feel I've looked at all the angles. Then I decide what to do.
I've always looked forward into the future and made plans of how things will
probably end up. Things rarely go exactly as planned but never too far off from
my original idea. Sometimes I've had to readjust my plan. But over the last
couple years, I've been blindsided more than once.

I've always anticipated and prepared. I've always had a
plan.

Not anymore.

Aside from some very basic things like planning where I can
for Kyle and Morgan, I'm done with plans. For my own well-being I need to let
go. I need to follow where life leads me. Take one small step at a time and
just go with it.

I'm not saying I'm giving up or that I won't have goals, I'm
just saying that I will be limiting my expectations for the future so I can
better concentrate on today.

Morgan is now 76 days seizure free. But who's counting. We have her evaluations with Early Intervention coming up and it will be interesting to see what they say.

Saturday, June 13, 2015

Morgan has been fighting a cold for the last week. This
means it has been a exhausting routine of clearing out her nose, taking her to
the pediatrician to be examined, having the nurses suction her out and restless
nights. We even spent some time at the Respiratory Clinic in Alta Hospital.
Luckily, her cold has not evolved into something else. No ear infection or any
other secondary problems. Just a really bad cold. But she sounded absolutely
terrible on her 7th day of the cold. She had no fever and no other symptoms but
she sounded like there was a motor lodged in her throat. Not wanting to take
any chances with her delicate health, I made yet another appointment with our
pediatrician's office.

Our pediatrician's office consists of several doctors but,
at my insistence, we deal solely with
Dr. Conover. She began following Morgan's case since before Morgan was released
from the hospital at 2 months old and has been involved in every aspect of her
care from that point forward. She knows Morgan's complicated medical history
and during Morgan's rather intense treatment of infantile spasms, saw us twice
a week for a time. We feel completely comfortable with her and our appointments
are seamless interactions where only the most current issue and bits of
information are shared.

So when I called, I was a little dismayed to find that she
was completely overrun with patients and there simply was no way to squeeze
Morgan in. I was okay with it. Morgan needed to be seen whether by her regular
doctor or someone else, at least I could get her checked out. We were scheduled
to be there in a couple hours.

I knew what a different doctor meant. It meant explaining. It
meant going over Morgan's complex medical history. It meant questions. I did a
mental sigh as I got the kids ready to go. I knew what to expect.

We got there and went in through the back door (this should
tell you how well they know us) and was shown into an examination room. Once
the nurse was done taking all of Morgan's vitals, the doctor came in. He asked
me all kinds of question while reading her chart and, like all doctors who
first encounter Morgan, he examined her with curiosity and interest.

Then he asked me, "is she expected to talk?"

Some questions are easier to answer than others. Yes, she is
delayed. Yes, seizures are a part of her syndrome. No, despite some struggles,
she eats quite well. But "Is she expected to talk?" Meaning, will she
ever speak? Is a hard question to answer.

Mainly because I don't know. I don't know if she will or if
she won't. No one knows. It's entirely up to Morgan. So I answered the doctor
the best I could. "She may. I guess
kids with her syndrome range from non-verbal to kids who speak quite
well." That was about all I could manage.

I'm not used to answering so many difficult questions.
Questions about what my daughter may or may not be able to do. And I'm not used
to the many questions from doctors and people who encounter her. I know there is
a chance that Morgan could be non-verbal. But I also know there is a chance
that she will speak and be able to express herself. I know that speech therapy
will be in her near future. From that point on, who knows.